Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Ceacam20'

292111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

CEA cell adhesion molecule 20

Synonyms

9130012D09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

19699337-19725029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19704332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 128 (V128F)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094753]

AlphaFold

Q9D2Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000094753
AA Change: V128F

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: V128F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	57	139	1.4e-7	SMART
IGc2	162	220	1.68e-5	SMART
IG	244	326	1.85e-7	SMART
IGc2	349	406	4.67e-4	SMART
transmembrane domain	431	453	N/A	INTRINSIC
low complexity region	458	473	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Ceacam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Ceacam20	APN	7	19,708,199 (GRCm39)	missense	probably damaging	1.00
IGL01574:Ceacam20	APN	7	19,708,247 (GRCm39)	missense	possibly damaging	0.48
IGL03035:Ceacam20	APN	7	19,711,833 (GRCm39)	critical splice donor site	probably null
IGL03144:Ceacam20	APN	7	19,705,444 (GRCm39)	missense	possibly damaging	0.65
R0129:Ceacam20	UTSW	7	19,710,185 (GRCm39)	missense	probably damaging	1.00
R0573:Ceacam20	UTSW	7	19,720,593 (GRCm39)	missense	probably damaging	0.97
R0616:Ceacam20	UTSW	7	19,704,321 (GRCm39)	missense	probably benign	0.01
R1016:Ceacam20	UTSW	7	19,710,227 (GRCm39)	missense	probably null
R1218:Ceacam20	UTSW	7	19,710,022 (GRCm39)	missense	probably benign	0.00
R1257:Ceacam20	UTSW	7	19,708,117 (GRCm39)	missense	probably benign	0.03
R2334:Ceacam20	UTSW	7	19,705,516 (GRCm39)	missense	probably damaging	1.00
R3051:Ceacam20	UTSW	7	19,710,110 (GRCm39)	missense	probably benign	0.33
R4184:Ceacam20	UTSW	7	19,710,041 (GRCm39)	missense	probably damaging	1.00
R4667:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4668:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4669:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4953:Ceacam20	UTSW	7	19,705,651 (GRCm39)	missense	probably damaging	1.00
R5000:Ceacam20	UTSW	7	19,699,453 (GRCm39)	missense	probably damaging	0.98
R5450:Ceacam20	UTSW	7	19,712,133 (GRCm39)	missense	possibly damaging	0.94
R5561:Ceacam20	UTSW	7	19,704,318 (GRCm39)	missense	possibly damaging	0.90
R6118:Ceacam20	UTSW	7	19,705,654 (GRCm39)	missense	possibly damaging	0.90
R6414:Ceacam20	UTSW	7	19,710,056 (GRCm39)	missense	probably damaging	1.00
R6970:Ceacam20	UTSW	7	19,723,902 (GRCm39)	missense	probably damaging	1.00
R7220:Ceacam20	UTSW	7	19,701,678 (GRCm39)	missense	probably damaging	0.99
R7426:Ceacam20	UTSW	7	19,704,159 (GRCm39)	missense	probably damaging	1.00
R8159:Ceacam20	UTSW	7	19,710,109 (GRCm39)	missense	probably damaging	0.97
R8222:Ceacam20	UTSW	7	19,705,618 (GRCm39)	missense	probably benign	0.07
R8265:Ceacam20	UTSW	7	19,708,159 (GRCm39)	missense	probably damaging	1.00
R8322:Ceacam20	UTSW	7	19,705,628 (GRCm39)	missense	probably damaging	1.00
R8823:Ceacam20	UTSW	7	19,705,429 (GRCm39)	missense	probably damaging	1.00
R9325:Ceacam20	UTSW	7	19,720,607 (GRCm39)	missense	probably benign	0.00
R9367:Ceacam20	UTSW	7	19,705,533 (GRCm39)	missense	probably damaging	1.00
R9553:Ceacam20	UTSW	7	19,723,926 (GRCm39)	missense	probably damaging	1.00
Z1177:Ceacam20	UTSW	7	19,704,089 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16